Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures

Abstract

Biotinidase deficiency is a rare, autosomal recessive metabolic disorder with a global incidence of 1 in 60,000 births. The clinical manifestations of biotinidase deficiency are varied, impacting the neurological, dermatological, respiratory, and immune systems. Patients with this deficiency may exhibit neurological symptoms such as seizures, hypotonia, sensorineural hearing loss